ClinVar Miner

Variants in gene LRSAM1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
14 9 145 73 43 2 260

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 2P 14 7 101 28 15 2 163
not provided 0 3 21 9 29 0 62
Charcot-Marie-Tooth disease, type 2 0 0 31 11 4 0 46
not specified 0 0 2 36 5 0 42
Charcot-Marie-Tooth disease 2 0 3 0 0 0 4
Inborn genetic diseases 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 5 101 28 11 0 153
GeneDx 0 3 18 44 30 0 95
Illumina Clinical Services Laboratory,Illumina 0 0 31 11 4 0 46
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 0 4
Inherited Neuropathy Consortium 0 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 2
Ambry Genetics 0 0 2 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 1 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 0 1 0 0 0 0 1

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